Synonyms

Disorder Subdivisions

None

General Discussion

Congenital Varicella Syndrome is an extremely rare disorder in which affected infants have distinctive abnormalities at birth (congenital) due to the mother's infection with chickenpox (maternal varicella zoster) early during pregnancy (i.e., up to 20 weeks gestation). Affected newborns may have a low birth weight and characteristic abnormalities of the skin; the arms, legs, hands, and/or feet (extremities); the brain; the eyes; and/or, in rare cases, other areas of the body. The range and severity of associated symptoms and physical findings may vary greatly from case to case depending upon when maternal varicella zoster infection occurred during fetal development.

In many cases, newborns with Congenital Varicella Syndrome may be abnormally small and have a low birth weight due to abnormal growth delays during fetal development (intrauterine growth retardation). In addition, distinctive skin abnormalities are often present. Certain areas of the skin may consist of thickened, overgrown (hypertrophic) scar tissue (cicatrix), and surrounding skin may appear abnormally hardened (indurate), red, and inflamed (erythema). Such cicatrix scarring typically occurs on one or more of the arms and/or legs, which may also be malformed, underdeveloped (hypoplastic), and abnormally shortened (reduction deformities). Affected infants may also exhibit incomplete development (hypoplasia) of certain fingers and/or toes (rudimentary digits).

In some cases, newborns with Congenital Varicella Syndrome may have abnormalities of the brain such as degeneration of the outer portion of the brain (cortical atrophy) and/or abnormal enlargement of cavities of the brain (dilated ventricles [ventriculomegaly]). There may also be abnormalities of the part of the nervous system that controls involuntary functions (autonomic nervous system) such as damage to or abnormalities of certain nerve fibers (sympathetic nerve fibers) that pass from the spinal cord to the neck and/or pelvic area. Some affected infants and children may also exhibit abnormal smallness of the head (microcephaly), delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation), varying degrees of mental retardation, and/or learning disabilities. In some cases, characteristic eye (ocular) abnormalities may also be present including loss of transparency of the lenses of the eyes (cataracts); abnormal smallness of one or both eyes (unilateral or bilateral microphthalmia); involuntary, rapid, side-to-side movements of the eyes (pendular nystagmus); and/or inflammation and scarring of certain membranes of the eyes (chorioretinitis and chorioretinal scarring). Such ocular abnormalities may result in varying degrees of visual impairment. In rare cases, newborns with Congenital Varicella Syndrome may have additional abnormalities associated with the disorder.

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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